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TRHR

Chr 8q23.1

thyrotropin releasing hormone receptor

MANE:
ENST00000518632.2

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Congenital hypothyroidism

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

Disease associations (Open Targets)

  • hypothyroidism, congenital, nongoitrous, 7

    0.73
  • central nervous system disorder

    0.46
  • sickle cell disease

    0.36
  • hypertensive disorder

    0.34
  • essential hypertension

    0.33
  • cerebellar ataxia

    0.33
  • smoking initiation

    0.30
  • Abnormal pupillary function

    0.29
  • Spinocerebellar tract degeneration

    0.28
  • liver disorder

    0.28

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Thyrotropin-releasing hormone receptor

Receptor for thyrotropin-releasing hormone (TRH). Upon ligand binding, this G protein-coupled receptor triggers activation of the phosphatidylinositol (IP3)-calcium-protein kinase C (PKC) pathway

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.